Varaico: Literature-Extracted Genetic Variants

RNF213

737 papers

RefSeq Summary

This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein...

Pfam Domains

zf-C3HC4aa 4046–4084UCSCZinc finger, C3HC4 type (RING finger)

ZnF_RZ-typeaa 4539–4594UCSCRZ type zinc finger domain

Gene Aliases

HGNC Name

ring finger protein 213

HGNC Previous Symbols

C17orf27; KIAA1618; MYMY2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1147 variants

338 papers

NM_001256071.3

p.R4810K

c.14429G>A

40 papers

NM_001256071.3

p.D4013N

c.12037G>A

40 papers

NM_001256071.3

p.A4399T

c.13195G>A

34 papers

NM_001256071.3

p.A5021V

c.15062C>T

29 papers

NM_001256071.3

p.R4062Q

c.12185G>A

29 papers

NM_001256071.3

p.E4950D

c.14850G>C

29 papers

NM_001256071.3

p.E4950D

c.14850G>T

28 papers

NM_001256071.3

p.C3997Y

c.11990G>A

23 papers

NM_001256071.3

p.R4019C

c.12055C>T

21 papers

NM_001256071.3

p.P4007R

c.12020C>G

19 papers

NM_001256071.3

p.P4608S

c.13822C>T

19 papers

NM_001256071.3

p.D4863N

c.14587G>A